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renal hypodysplasia/aplasia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

renal hypodysplasia/aplasia 2

MONDO:0014319

Also known as:FGF20 renal agenesis (disease)renal agenesis (disease) caused by mutation in FGF20renal hypodysplasia/aplasia type 2

Overview

Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene.

GeneticsAutosomal recessive · FGF20 (chr 8)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Bilateral renal agenesis, Pulmonary hypoplasia, Redundant skin, and Potter facies and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Bilateral renal agenesis
Lungs and breathing

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FGF20 encodes fibroblast growth factor 20 (211 aa). Neurotrophic factor that regulates central nervous development and function Highest expression in Brain Cerebellar Hemisphere (3.7 TPM) and Brain Cerebellum (3.0 TPM).

Renal hypodysplasia/aplasia 2 is associated with mutations in the FGF20 gene on chromosome 8.

FGF20 is classified as a druggable target (Druggable Genome and Growth Factor categories) with score 0.0.

Diagnosis

Genetic testing for FGF20 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615721

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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renal hypodysplasia/aplasia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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